High frequency of a splice mutation in intron 2 of the 21-hydroxylase gene in Russia could be partly explained by a founder effect.
Polyakov
A V
AV
DNA Diagnostics Laboratory, Research Center of Medical Genetics, Moskvorechie, Moscow, Russia.
Dzenis
I G
IG
Baharev
V A
VA
Evgrafov
O V
OV
D017398:Alternative Splicing / Q000235:genetics*; D004247:DNA / Q000235:genetics / Q000378:metabolism; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D005192:Family Health; D005260:Female; D018703:Founder Effect; D005787:Gene Frequency; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007438:Introns / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D017354:Point Mutation; D012426:Russia; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
D004247:DNA; D013255:Steroid 21-Hydroxylase; C024669:endodeoxyribonuclease AluI; D015252:Deoxyribonucleases, Type II Site-Specific